HLA-C
Summary: HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:142840 Ensembl IDEnsembl:ENSG00000204525 HGNC IDHGNC:HGNC:4933 PHARMGKB IDPA35057 Map Location6p21.33 | |||||
GO terms in HLA-C
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0001916 | positive regulation of T cell mediated cytotoxicity |
| BP | IBA | GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I |
| BP | TAS | GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I |
| BP | IBA | GO:0002476 | antigen processing and presentation of endogenous peptide antigen via MHC class Ib |
| BP | TAS | GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent |
| BP | TAS | GO:0002480 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent |
Gene expression in normal tissue: HLA-C
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HLA-C
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP183 | Proteasome Degradation |
| wikipathways | WP2328 | Allograft Rejection |
| kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
| kegg | hsa04145 | Phagosome - Homo sapiens (human) |
| kegg | hsa04218 | Cellular senescence - Homo sapiens (human) |
| kegg | hsa04514 | Cell adhesion molecules (CAMs) - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HLA-C
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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